Severe combined immunodeficiency (SCID) became highly publicized in the 1980s when news organizations reported on the life of David Vetter, a boy born with a deficient immune system who lived in a plastic bubble for more than a decade.
His older brother died of the disease as an infant, and before his birth, Vetter's parents knew it was highly likely he would be born with the disease, according to the National Human Genome Research Institute (NHGRI).
His life inspired the 1976 movie "The Boy in the Plastic Bubble," starring John Travolta, and a 2001 film featuring Jake Gyllenhaal titled after Vetter's nickname, "Bubble Boy." After a failed bone marrow transplant, Vetter died in 1984 at age 12.
While the Hollywood stars play characters who are adults, children born with SCID who go untreated commonly die before their first or second birthdays, said Dr. Ragini Kapoor, a pediatrician with St. Mary's Hospital.
That was the case for the great-grandnephew of one of state Rep. Rebecca Roeber's constituents. Five days after his first birthday, the Kansas City boy died from the condition.
Roeber, R-Lee's Summit, filed legislation this session that would require SCID to be included in newborn screenings. The bill passed through the Missouri House of Representatives last week, and state Sen. Will Kraus, also a Lee's Summit Republican, is carrying it in the Senate. A few years ago, a similar bill was filed but died. Since then, Roeber said two Missouri babies have died of SCID.
In families, it can be genetically passed down in males, and parents who are aware of the inheritence can have their children screened after birth. The testing often saves lives, and that's Roeber's hope for all Missouri babies.
"(My constituent) didn't understand why we weren't doing this test because it would have almost certainly saved (her great-grandnephew's) life," she said.
Dr. Pauline Burrell, a pediatrician with Capital Region Medical Center, said SCID is a disorder affecting two of the body's main blood cells - the T- and B-lymphocytes - that fight infections.
"If you don't have your T- and B-cells to fight infections, then you get every little infection possible. Then you can't fight them off, including the common cold, which can be pretty detrimental," she said.
SCID is a rare condition - so rare there is no "central record" of how many babies are diagnosed annually, according to the NHGRI, but it is estimated to be about 40-100. The condition is present in the womb as the child grows and develops, and then they are born with it. They are not affected until the child is exposed to illnesses its body can't fight, Burrell said.
"Traditionally, we find SCID when a baby is getting recurrent infections that aren't normal," she said. "Babies normally get colds, and they normally get ear infections. But with SCID, they get opportunistic infections. They have failure to thrive, they don't grow well. In general, they are fussy kids because they don't feel well because they're always trying to fight off infections and don't have the cells needed to do so."
Kapoor said a child with SCID will often have pneumonia, meningitis or bloodstream infections, as well as diarrhea and problems gaining weight. They start having regular infections, she said, and don't respond appropriately to antibiotics.
"What appears to be an ear infection for normal kids, can turn into a life-threatening emergency very quickly," Kapoor said.
If diagnosed early enough, infants can receive bone marrow transplants and go on to lead normal lives, Burrell said. Depending on the type of SCID, children can also undergo enzyme replacement or gene therapy.
"If we can get these kids diagnosed and treated prior to having any infections, they really have a good outcome for life to be normal just like any other kid, and that's always our goal as pediatricians - to make kids' lives as normal and healthy as possible," Burrell said. "I think it's a great addition to the newborn screening program."
Roeber said adding SCID to the newborn screening will not require more blood droplets from infants (two droplets are taken, currently). Newborn screenings will cost $9 more each to add SCID. Roeber's bill includes an emergency clause that would make the bill effective July 1, if signed by Gov. Jay Nixon, but the federal government requires six months of testing before babies can be screened for SCID.
"This can save children's lives," Roeber said. "I told people that if I don't get anything else done here in the Legislature, I'll be happy that I've done this."